PLASMA-LIPOPROTEIN PROFILES OF NORMOCHOLESTEROLEMIC AND HYPERCHOLESTEROLEMIC HOMOZYGOTES FOR APOLIPOPROTEIN E2(ARG(158)-]CYS) COMPARED

We compared plasma lipoprotein profiles of 15 individuals with normoch olesterolemic (plasma cholesterol 4.81 +/- 0.90 mmol/L) familial dysbe talipoproteinemia (NFD) and 15 patients with hypercholesterolemic (pla sma cholesterol 10.61 +/- 2.32 mmol/L) familial dysbetalipoproteinemia (HFD), matched for age and sex. All subjects were homozygous for apoE 2(Arg(158)-->Cys). Compared with 15 normolipidemic controls (plasma ch olesterol 5.47 +/- 0.92 mmol/L), subjects with NFD and HFD had greater cholesterol concentrations of large very-low-density lipoprotein (VLD L1), small VLDL (VLDL2), and intermediate-density lipoprotein, each of which was correlated to their plasma total cholesterol concentration. VLDL1 and VLDL2 subfractions were enriched in cholesteryl ester, and plasma cholesteryl ester transfer protein activities were increased in both NFD and HFD; however, absolute changes were larger in HFD than i n NFD. Concentrations of low-density lipoprotein cholesterol were lowe r in HFD (1.89 +/- 0.48 mmol/L) and NFD (1.56 +/- 0.36 mmol/L) than in normolipidemic controls (3.35 +/- 0.73 mmol/L). We conclude that all subjects homozygous for apoE2(Arg(158)-->Cys) show features of dysbeta lipoproteinemia.